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WormBase Tree Display for Variation: WBVar00143095

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Name Class

WBVar00143095EvidencePaper_evidenceWBPaper00030788
NamePublic_namee300
Other_nameCE27791:p.Gln36Ter
C04F5.3.1:c.106C>T
HGVSgCHROMOSOME_V:g.5098798G>A
Sequence_detailsSMapS_parentSequenceC04F5
Flanking_sequencesggtatagaatcaagttttgttcatgaaaataaacaattggattgaaaaaggaaaatgttt
Mapping_targetC04F5
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00030788
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryCB
StatusLive
AffectsGeneWBGene00006782
TranscriptC04F5.3.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC04F5.3.1:c.106C>T
HGVSpCE27791:p.Gln36Ter
cDNA_position228
CDS_position106
Protein_position36
Exon_number2/9
Codon_changeCaa/Taa
Amino_acid_changeQ/*
GeneticsInterpolated_map_positionV-2.5189
DescriptionPhenotypeWBPhenotype:0000324Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkshorter than unc-43(e408)Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000563Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkshrinking more marked than unc-43(e408)Person_evidenceWBPerson261
Curator_confirmedWBPerson712
ReferenceWBPaper00030788
RemarkSite of e300 lesion was estimated from figure 1; actual coordinates are not provided in the paper.Paper_evidenceWBPaper00030788
MethodSubstitution_allele